Results 41 to 50 of about 22,388 (216)

Health-Related Quality of Life and Fatigue in Children with Pompe Disease

Journal of Pediatrics: Clinical Practice
Objective: Pompe disease is an inheritable metabolic myopathy caused by the deficiency of the lysosomal enzyme acid-⍺-glucosidase. The aim of this study was to investigate self-reported and parent-reported health related quality of life (HR-QOL) and ...
Linda E. Scheffers, Karolijn Dulfer, PhD, Charlotte Lanser, Maarten Mackenbach, MD, Ans T. van der Ploeg, MD, PhD, Johanna M.P. van den Hout, MD, PhD, Linda E. van den Berg, MD, PhD   +6 more
doaj   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

Increased aortic stiffness and blood pressure in non-classic Pompe disease [PDF]

, 2014
Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been described in Pompe disease. Using carotid-femoral pulse wave velocity (cfPWV), the gold standard methodology for determining aortic stiffness, we studied whether ...
A Nemes, A Nemes, A Paini, AH El-Gharbawy, AM Huijben, Ans T. van der Ploeg, AP Hoeks, AT Ploeg van der, BA Kingwell, BL Thurberg, C Collin, D Güngör, EJ Balkestein, Eric J. G. Sijbrands, Esther Brusse, Esther Kuperus, F Verbeke, Francesco U. S. Mattace-Raso, FU Mattace-Raso, H Kobayashi, HM Hout van den, Kees C. A. G. M. van Montfort, LM Bortel Van, LP Winkel, LP Winkel, Marjan Scheltens- de Boer, Michelle E. Kruijshaar, NA Beek van der, OI Soliman, P Laforet, Pieter A. van Doorn, S Laurent, S Sacconi, SC Dijk van, SS DeLoach, Stephan C. A. Wens, WE Braunsdorf, X Girerd   +37 more
core   +2 more sources

Using Decision Analysis to Support Newborn Screening Policy Decisions: A Case Study for Pompe Disease

MDM Policy & Practice, 2018
Background: Newborn screening is a public health program to identify conditions associated with significant morbidity or mortality that benefit from early intervention.
Lisa A. Prosser, K. K. Lam, Scott D. Grosse, Mia Casale, Alex R. Kemper,   +5 more
doaj   +1 more source

A Newborn Screening, Presymptomatically Identified Infant With Late-Onset Pompe Disease: Case Report, Parental Experience, and Recommendations

International Journal of Neonatal Screening, 2020
Pompe disease is an inherited lysosomal storage disorder caused by acid alpha-glucosidase (GAA) enzyme deficiency, resulting in muscle and neuron intralysosomal glycogen storage.
Raymond Y. Wang
doaj   +1 more source

Correction of oxidative stress enhances enzyme replacement therapy in Pompe disease

EMBO Molecular Medicine, 2021
Pompe disease is a metabolic myopathy due to acid alpha‐glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology.
Antonietta Tarallo, Carla Damiano, Sandra Strollo, Nadia Minopoli, Alessia Indrieri, Elena Polishchuk, Francesca Zappa, Edoardo Nusco, Simona Fecarotta, Caterina Porto, Marcella Coletta, Roberta Iacono, Marco Moracci, Roman Polishchuk, Diego Luis Medina, Paola Imbimbo, Daria Maria Monti, Maria Antonietta De Matteis, Giancarlo Parenti   +18 more
doaj   +1 more source

Rare case of type II glycogen storage disease [PDF]

, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R., Mukhina, T. S., Nagorniy, V. A., Trunova, R. B., Tverskoi, A. V.   +4 more
core   +2 more sources

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. [PDF]

, 2017
BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure.
Barohn, Richard, Barshop, Bruce A, Bratkovic, Drago, Byrne, Barry J, Desnuelle, Claude, Geberhiwot, Tarekegn, Haroldsen, Peter, Hughes, Derralynn, Jayaram, Kala, Laforet, Pascal, Mengel, Eugen, POM-001/002 Investigators, Reilley, Kristin, Roberts, Mark, Walsh, Liron, Yang, Ke   +15 more
core   +2 more sources

Newborn screening for pompe disease? A qualitative study exploring professional views [PDF]

, 2014
Background: Developments in enzyme replacement therapy have kindled discussions on adding Pompe disease, characterized by progressive muscle weakness and wasting, to neonatal screening. Pompe disease does not fit traditional screening criteria as it is a
Cornel, M.C. (Martina), El, C.G. (Carla), Ploeg, A.T. (Ans) van der, Reuser, A.J.J. (Arnold), Rigter, T. (Tessel), Weinreich, S.S. (Stephanie S.)   +5 more
core   +1 more source

Pompe disease gene therapy [PDF]

Human Molecular Genetics, 2011
Pompe disease is an autosomal recessive metabolic myopathy caused by the deficiency of the lysosomal enzyme acid alpha-glucosidase and results in cellular lysosomal and cytoplasmic glycogen accumulation. A wide spectrum of disease exists from hypotonia and severe cardiac hypertrophy in the first few months of life due to severe mutations to a milder ...
Barry J, Byrne, Darin J, Falk, Christina A, Pacak, Sushrusha, Nayak, Roland W, Herzog, Melissa E, Elder, Shelley W, Collins, Thomas J, Conlon, Nathalie, Clement, Brian D, Cleaver, Denise A, Cloutier, Stacy L, Porvasnik, Saleem, Islam, Mai K, Elmallah, Anatole, Martin, Barbara K, Smith, David D, Fuller, Lee Ann, Lawson, Cathryn S, Mah   +18 more
openaire   +3 more sources